Variant (rsID / SNP)

rs4660468

rs4660468 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ4. Location: chromosome 1, position 41,285,087. Clinical significance in the table: Benign.

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Reference-table entries

KCNQ4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:41285087
Cytoband: 1p34.2
HGVS: NM_004700.4(KCNQ4):c.777T>C (p.Ala259=)
Allele change: Synonymous_A259A

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 2A

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.